ClinGen Allele Registry
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Canonical Allele Identifier:
PA2829707038
Gene: BRCA1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
55333
ClinVar RCV Id:
RCV000112436
RCV000223580
RCV003162417
RCV000709466
RCV001528321
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_009229.2:p.Ser551Phe
CA003111
NM_007298.3:c.1652C>T